Q9BX97
PR
Gene name |
PLVAP (FELS, PV1) |
Protein name |
Plasmalemma vesicle-associated protein |
Names |
Fenestrated endothelial-linked structure protein, Plasmalemma vesicle protein 1, PV-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83483 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9BX97
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BX97-F1 | Predicted | AlphaFoldDB |
407 variants for Q9BX97
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA404686187 rs1568378665 VAR_081738 RCV000721167 |
34 | L>P | Diarrhea 10, protein-losing enteropathy type DIAR10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000721166 rs199712527 CA404673545 |
330 | Q>* | Diarrhea 10, protein-losing enteropathy type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081739 | 330 | Q>del | DIAR10 [UniProt] | Yes | UniProt |
|
CA9293888 rs761158492 RCV000721165 |
358 | R>* | Diarrhea 10, protein-losing enteropathy type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_081740 | 358 | R>del | DIAR10; the protein is not expressed in the patient biopsy tissues [UniProt] | Yes | UniProt |
|
CA404687221 rs1300956432 |
2 | G>C | No |
ClinGen TOPMed |
|
|
rs754392053 CA9294170 |
5 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9294169 rs766857119 |
7 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA9294167 rs569842497 |
8 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404686976 rs1599581801 |
10 | S>A | No |
ClinGen Ensembl |
|
|
rs761339710 CA9294165 COSM992788 |
10 | S>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs761339710 CA404686975 |
10 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1400784907 CA404686962 |
11 | Y>D | No |
ClinGen gnomAD |
|
|
rs958813990 CA306071969 |
12 | A>D | No |
ClinGen TOPMed |
|
|
CA9294162 rs201136194 |
12 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9294159 rs145946398 |
13 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370989890 CA9294160 |
13 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780823307 CA9294158 |
14 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967798942 CA404686845 |
15 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs967798942 CA306071947 |
15 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9294156 rs748305958 |
16 | G>C | No |
ClinGen ExAC gnomAD |
|
| rs768884250 | 17 | S>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376999423 CA404686730 |
19 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9294151 rs376999423 |
19 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199848268 CA9294152 |
19 | R>W | Variant assessed as Somatic; 0.0003699 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1359780854 CA404686700 |
20 | G>A | No |
ClinGen gnomAD |
|
|
CA9294150 rs780657390 |
22 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599581735 CA404686573 |
23 | Y>D | No |
ClinGen Ensembl |
|
|
CA404686515 rs1312664727 |
24 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1339019179 CA404686541 |
24 | Y>H | No |
ClinGen gnomAD |
|
|
CA9294146 rs761581948 |
26 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751163716 CA9294145 |
26 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761581948 CA9294147 |
26 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306071917 rs868848640 |
29 | F>L | No |
ClinGen Ensembl |
|
|
CA404686302 rs1391727756 |
30 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9294142 rs775440857 |
32 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA306071906 rs866755667 |
33 | S>F | No |
ClinGen Ensembl |
|
|
CA9294141 rs769765004 |
35 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs759373661 CA9294140 |
35 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370808478 CA306071869 |
37 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs1260915497 CA404686091 |
38 | L>F | No |
ClinGen gnomAD |
|
|
rs1468269802 CA404686028 |
39 | I>S | No |
ClinGen TOPMed |
|
|
rs1391265247 CA404686013 |
40 | I>V | No |
ClinGen gnomAD |
|
|
rs1244012274 CA404685884 |
43 | L>F | No |
ClinGen TOPMed |
|
|
CA404685824 rs1265269442 |
44 | V>G | No |
ClinGen gnomAD |
|
|
CA306071846 rs1050804005 |
44 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1050804005 CA404685829 |
44 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1448347698 CA404685643 |
47 | M>I | No |
ClinGen gnomAD |
|
|
CA9294135 rs768880782 |
47 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331703168 CA404685511 |
51 | N>K | No |
ClinGen gnomAD |
|
|
rs1399490602 CA404685522 |
51 | N>S | No |
ClinGen gnomAD |
|
|
CA9294133 rs780248527 |
52 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA404685498 rs780248527 |
52 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9294134 rs749339163 |
52 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9294132 rs142410285 |
53 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781666053 CA9294130 |
54 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1324505433 CA404685402 |
55 | S>T | No |
ClinGen TOPMed |
|
|
rs757494591 CA9294129 |
56 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404685337 rs1380638230 |
57 | E>D | No |
ClinGen TOPMed |
|
|
rs1284487206 CA404685362 |
57 | E>K | No |
ClinGen TOPMed |
|
|
CA306071828 rs1042551355 |
58 | S>A | No |
ClinGen gnomAD |
|
|
rs763699280 CA9294127 |
59 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs751234978 CA9294128 |
59 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271784476 CA404685220 |
63 | T>A | No |
ClinGen TOPMed |
|
|
rs1200519805 CA404685210 |
63 | T>I | No |
ClinGen gnomAD |
|
|
CA9294124 rs764717160 |
64 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752257496 CA9294125 |
64 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404685175 rs1445704093 |
65 | R>C | No |
ClinGen TOPMed |
|
|
rs759585750 CA9294123 |
65 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766211783 CA9294122 |
66 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs377063729 CA9294120 |
66 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9294119 rs148432183 |
68 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9294118 rs769038147 |
69 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9294116 rs775769601 |
73 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9294112 rs757659466 COSM417701 |
78 | T>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781492569 CA9294113 |
78 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404684892 rs1341221728 COSM3822263 |
79 | A>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 81 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170359478 CA404684825 |
83 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380542170 CA404684786 |
85 | T>A | No |
ClinGen gnomAD |
|
|
CA404684766 rs1180068923 |
86 | K>E | No |
ClinGen gnomAD |
|
|
rs1459394971 CA404684735 |
87 | E>* | No |
ClinGen gnomAD |
|
|
rs990412603 CA306071802 |
88 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9294107 rs764733287 |
90 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404684599 rs1217549417 |
93 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754389238 CA9294106 |
93 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404684605 rs1217549417 |
93 | R>S | No |
ClinGen gnomAD |
|
|
CA9294104 rs766188433 |
94 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149417306 COSM992786 CA9294102 |
95 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1486761415 CA404684554 |
95 | K>T | No |
ClinGen TOPMed |
|
|
CA9294101 rs767407051 |
96 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA404684499 rs1360892424 |
98 | I>L | No |
ClinGen gnomAD |
|
|
CA9294100 rs763432892 |
99 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437325736 CA404684475 |
99 | M>V | No |
ClinGen gnomAD |
|
|
rs775784143 CA9294099 |
100 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773487124 CA306071788 |
100 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1362001775 CA404684300 |
105 | A>V | No |
ClinGen TOPMed |
|
|
rs1437484107 CA404684291 |
106 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 106 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369760303 CA306071784 COSM3388708 |
107 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
CA404684249 rs771392551 |
108 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9294096 rs776744043 |
108 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9294095 rs771392551 |
108 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9294093 rs778180557 |
111 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778180557 CA404684186 |
111 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9294092 rs144117840 COSM3796763 |
111 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9294094 rs778180557 |
111 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9294091 rs747812278 |
113 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778490932 CA9294090 |
115 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA404684046 rs1371634093 |
116 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9294088 rs753327481 |
117 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9294087 COSM3692483 rs199706929 |
117 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1331413114 CA404683974 |
118 | Q>* | No |
ClinGen TOPMed |
|
|
CA9294085 rs750381022 |
118 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404683909 rs1239020343 |
120 | Q>* | No |
ClinGen TOPMed |
|
|
CA9294084 rs767421295 |
120 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761638522 CA9294083 |
123 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306071746 rs770630568 COSM3286072 |
123 | R>W | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9294064 rs751452420 |
124 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9294062 rs759747264 |
125 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1336952575 CA404678070 |
126 | Y>H | No |
ClinGen TOPMed |
|
|
rs1270938630 CA404678011 |
129 | N>K | No |
ClinGen Ensembl |
|
|
rs201733879 CA9294061 |
129 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201733879 CA404678019 |
129 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs977912941 CA306066093 |
129 | N>Y | No |
ClinGen Ensembl |
|
|
rs1010258158 CA306066092 |
130 | Q>E | No |
ClinGen TOPMed |
|
|
rs375005956 CA306066091 |
133 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404677958 rs1204314678 |
135 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1365130004 CA404677937 |
138 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760698566 CA9294059 |
140 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404677925 rs1339931105 |
140 | E>K | No |
ClinGen gnomAD |
|
|
rs773740977 CA9294058 |
141 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404677899 rs1401428835 |
143 | C>S | No |
ClinGen gnomAD |
|
|
rs1333749728 CA404677892 |
144 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306066081 rs890837 |
146 | Q>P | No |
ClinGen Ensembl |
|
|
rs34920409 CA9294057 |
147 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372994051 CA404677808 |
150 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404677751 rs1176960389 |
152 | K>R | No |
ClinGen gnomAD |
|
|
CA9294056 rs762283487 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9294031 rs745490790 |
158 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9294032 rs745490790 |
158 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404677486 rs1314101904 |
159 | F>I | No |
ClinGen gnomAD |
|
|
rs553053776 CA9294030 |
160 | M>I | No |
ClinGen 1000Genomes ExAC |
|
|
COSM992784 rs1195334907 CA404677422 |
161 | L>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 163 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404677330 rs1198945833 |
165 | V>L | No |
ClinGen TOPMed |
|
|
COSM992783 rs539585301 CA9294028 |
167 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
| TCGA novel | 169 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA306065981 rs937838948 |
169 | E>G | No |
ClinGen TOPMed |
|
|
CA9294026 rs758159511 |
169 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9294025 rs778658837 |
172 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9294024 rs778658837 |
172 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568375599 CA404677200 |
173 | A>S | No |
ClinGen Ensembl |
|
|
rs971865510 CA306065980 |
175 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767588324 CA9294021 |
177 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757303200 CA9294020 |
178 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752025332 CA9294019 |
181 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9294018 rs570508978 |
182 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376976626 CA9294017 |
183 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404677060 rs1204143504 |
185 | S>G | No |
ClinGen gnomAD |
|
|
CA404677037 rs1247426961 |
186 | V>A | No |
ClinGen gnomAD |
|
|
rs373946539 CA306065958 |
186 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372765590 CA404677001 |
189 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776368180 COSM1480750 CA9294013 |
191 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776368180 CA404676977 |
191 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306065951 rs994260140 |
191 | R>H | No |
ClinGen gnomAD |
|
|
rs776368180 CA404676980 |
191 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9294011 rs151286294 |
192 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1381912196 CA404676952 |
193 | A>S | No |
ClinGen gnomAD |
|
|
rs781259802 CA9294010 |
193 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866897084 CA306065935 |
195 | E>K | No |
ClinGen Ensembl |
|
|
CA9294006 rs768371920 |
196 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9294005 rs367726351 |
196 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374679596 CA9294003 |
198 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9294004 rs374679596 |
198 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404676870 rs1272494296 |
199 | E>K | No |
ClinGen TOPMed |
|
|
CA404676852 rs1191820193 |
200 | C>R | No |
ClinGen gnomAD |
|
|
rs370726657 CA9294001 |
201 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404676824 rs1568375526 |
202 | K>E | No |
ClinGen Ensembl |
|
|
rs1599575860 CA404676807 |
203 | T>P | No |
ClinGen Ensembl |
|
|
CA306065901 rs531218988 |
204 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9293998 rs138938961 |
204 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9294000 rs531218988 |
204 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450884604 CA404676775 |
206 | L>Q | No |
ClinGen TOPMed |
|
|
CA404676772 rs1166337974 |
207 | Q>K | No |
ClinGen TOPMed |
|
|
CA9293995 rs766174780 |
208 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs945233145 CA306065893 |
208 | H>Y | No |
ClinGen Ensembl |
|
|
rs760223908 CA9293994 |
209 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs772839272 CA9293993 |
211 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771476239 CA9293992 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404676722 COSM1304161 rs377500653 |
212 | Q>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375201177 CA306065884 |
213 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs768461836 CA9293989 |
214 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749038957 CA9293988 |
219 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs779793464 CA9293987 |
219 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3388707 CA404676574 rs1341528824 |
220 | K>N | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA9293986 rs771233221 |
221 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA404676527 rs1252810874 |
222 | Q>R | No |
ClinGen gnomAD |
|
|
rs747183681 CA9293985 |
224 | L>F | No |
ClinGen ExAC |
|
|
rs758353667 CA9293983 |
227 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs758353667 CA9293984 |
227 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753279889 CA9293982 |
231 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195311246 CA404676258 |
232 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9293981 rs779522048 |
236 | D>N | No |
ClinGen ExAC |
|
|
CA9293980 rs370885388 COSM236830 |
238 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9293979 rs143453891 |
238 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9293978 rs199729551 |
242 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1370495407 CA404675889 |
246 | I>V | No |
ClinGen gnomAD |
|
|
CA404675833 rs1209182914 |
247 | P>L | No |
ClinGen TOPMed |
|
|
CA404675827 rs1262089528 |
248 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9293977 rs756937606 COSM1391454 |
248 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756937606 CA306065847 |
248 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186270013 CA404675785 |
249 | S>G | No |
ClinGen TOPMed |
|
|
CA9293976 rs749973935 |
250 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs761260651 CA9293974 |
251 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1328032996 CA404675692 |
251 | D>N | No |
ClinGen gnomAD |
|
|
rs1403675920 CA404675645 |
252 | N>H | No |
ClinGen gnomAD |
|
|
CA404675579 rs1166234714 |
254 | G>S | No |
ClinGen TOPMed |
|
|
CA404675537 rs1366223683 |
255 | Y>H | No |
ClinGen TOPMed |
|
|
CA306065822 rs764251855 |
257 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1599575735 CA404675432 |
258 | Y>S | No |
ClinGen Ensembl |
|
|
CA404675252 rs1280885279 |
263 | S>L | No |
ClinGen gnomAD |
|
|
CA404675180 rs773260384 |
265 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA9293967 rs773260384 |
265 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA9293966 rs61739312 |
266 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748283687 CA9293965 |
266 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404675136 rs1599575712 |
267 | S>P | No |
ClinGen Ensembl |
|
|
CA9293963 rs749810877 |
268 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA9293962 rs749810877 |
268 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs780468405 CA9293961 |
269 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9293960 rs756372237 |
269 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750109599 CA306065792 |
270 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9293959 rs750109599 |
270 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532294385 CA306065791 |
271 | A>T | No |
ClinGen 1000Genomes |
|
|
rs1028750051 CA306065790 |
271 | A>V | No |
ClinGen Ensembl |
|
|
rs1160027696 COSM3286058 CA404674897 |
273 | D>E | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9293957 rs200728670 |
273 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404674862 CA404674847 rs1406291057 |
275 | M>I | No |
ClinGen gnomAD |
|
|
CA9293955 rs139092467 |
275 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA306065772 rs543086219 |
275 | M>T | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9293956 rs139092467 |
275 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1267289384 CA404674826 |
276 | P>H | No |
ClinGen TOPMed |
|
|
rs1267289384 CA404674814 |
276 | P>L | No |
ClinGen TOPMed |
|
|
CA404674805 rs1465411003 |
277 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9293954 rs201285895 |
277 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473444183 CA404674777 |
278 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9293953 rs150753312 |
280 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9293952 rs765104141 |
283 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9293951 rs759212354 |
285 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306065766 rs1042522184 |
285 | E>K | No |
ClinGen TOPMed |
|
|
CA9293950 rs776456257 |
286 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA404674523 rs1568375383 |
287 | A>D | No |
ClinGen Ensembl |
|
|
rs772475301 CA404674508 |
288 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150260311 CA9293948 |
288 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9293949 rs772475301 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404674483 rs1395578051 |
289 | S>N | No |
ClinGen TOPMed |
|
|
CA306065730 rs896334725 |
289 | S>R | No |
ClinGen TOPMed |
|
|
rs1283361049 CA404674467 |
290 | L>P | No |
ClinGen gnomAD |
|
|
CA404674455 rs148762093 |
291 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148762093 CA9293946 |
291 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9293947 rs141514915 |
291 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9293945 rs374123136 |
292 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9293942 rs561048879 |
293 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9293939 rs370704284 |
295 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756960713 CA9293940 |
295 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763597063 CA9293938 |
296 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9293937 rs144053602 |
296 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9293935 rs200491210 |
297 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200491210 CA9293934 |
297 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404674285 rs1424478467 |
299 | R>G | No |
ClinGen gnomAD |
|
|
rs138584008 CA9293933 |
299 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138584008 CA404674272 |
299 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404674253 rs1241744157 |
300 | E>K | No |
ClinGen gnomAD |
|
|
rs892262273 CA306065681 |
302 | S>T | No |
ClinGen TOPMed |
|
|
CA404674127 rs1232643329 |
305 | Q>E | No |
ClinGen gnomAD |
|
|
CA404674088 rs1297171103 COSM263008 |
306 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1052700069 CA306065663 |
306 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1052700069 CA404674076 |
306 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1297171103 CA404674096 |
306 | R>S | No |
ClinGen gnomAD |
|
|
CA306065660 rs934707036 |
307 | Q>L | No |
ClinGen TOPMed |
|
|
CA9293928 rs374998380 |
310 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs971815592 CA306065644 |
313 | Q>* | No |
ClinGen Ensembl |
|
|
rs775604876 CA9293927 |
314 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs202200013 CA9293924 |
316 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138789000 CA9293925 |
316 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404673800 rs1172710892 |
317 | A>V | No |
ClinGen gnomAD |
|
|
CA9293923 rs759726274 |
318 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404673788 rs1419099438 |
318 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1419099438 CA404673786 |
318 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404673745 rs1244150474 |
320 | E>D | No |
ClinGen Ensembl |
|
|
rs376519104 COSM1304160 CA9293922 |
321 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758015518 CA9293920 |
324 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA404673670 rs1212823822 |
324 | K>M | No |
ClinGen gnomAD |
|
|
rs1252932417 CA404673658 COSM711261 |
325 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1028613392 CA306065594 |
327 | K>R | No |
ClinGen Ensembl |
|
|
CA9293917 rs754942023 |
328 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9293916 rs199712527 |
330 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766293089 CA9293915 |
330 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs760495218 CA404673510 |
331 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9293914 rs760495218 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9293911 rs763208613 |
332 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378302942 CA404673490 |
332 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM139127 rs763208613 CA9293912 |
332 | R>W | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1320302317 CA404673478 |
333 | E>* | No |
ClinGen gnomAD |
|
|
rs769912880 CA9293909 |
333 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1300363507 CA404673475 |
333 | E>G | No |
ClinGen gnomAD |
|
|
rs759964317 CA9293908 |
334 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1392095393 CA404673431 |
335 | K>T | No |
ClinGen TOPMed |
|
|
CA9293905 rs141002499 |
336 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404673361 rs1252607199 |
338 | A>D | No |
ClinGen gnomAD |
|
|
CA404673328 rs1175371420 |
340 | C>R | No |
ClinGen gnomAD |
|
|
CA404673331 rs1175371420 |
340 | C>S | No |
ClinGen gnomAD |
|
|
rs201354703 CA9293901 COSM1162398 |
342 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771680538 CA9293902 |
342 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778293545 CA9293900 |
344 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs112072429 CA9293898 |
347 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 348 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201791359 CA306065507 |
351 | K>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9293895 rs750288854 |
352 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404673094 rs1416623769 |
353 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9293891 rs141106508 |
355 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9293890 rs141106508 |
355 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9293892 rs771478951 |
355 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9293887 rs761158492 |
358 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146532352 CA9293886 |
358 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146532352 CA306065481 |
358 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772418879 CA9293885 |
359 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1256778971 CA404672942 |
359 | D>G | No |
ClinGen gnomAD |
|
|
CA404672952 rs1418495058 |
359 | D>N | No |
ClinGen gnomAD |
|
|
CA9293884 rs747771773 |
362 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774009238 CA9293883 |
363 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA404672764 rs1262924371 |
364 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9293882 rs768079144 |
364 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9293880 rs779684076 |
366 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9293879 rs756174826 |
366 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1353602589 CA404672684 |
368 | K>E | No |
ClinGen gnomAD |
|
|
COSM1304159 rs745795317 CA9293878 |
369 | K>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA306065426 rs560705260 |
370 | R>K | No |
ClinGen Ensembl |
|
|
COSM1391453 rs773739320 CA306065413 |
372 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404672449 rs1568375204 |
373 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 373 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142500391 CA9293876 |
374 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142500391 CA404672408 |
374 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404672371 rs1474164712 |
376 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9293874 rs73016435 |
377 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9293875 rs73016435 |
377 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1433926574 CA404672197 |
381 | I>M | No |
ClinGen TOPMed |
|
|
rs755134547 CA9293873 |
382 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA306065385 rs954262919 |
388 | T>I | No |
ClinGen Ensembl |
|
|
rs753976923 CA9293872 |
391 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227026920 CA404669671 |
394 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404669681 rs1599573347 |
394 | S>P | No |
ClinGen Ensembl |
|
|
rs1305433891 CA404669661 |
395 | Q>L | No |
ClinGen gnomAD |
|
|
RCV000974486 CA9293853 rs117691659 |
396 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404669651 rs117691659 |
396 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9293854 rs780126194 |
396 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768106935 CA9293851 |
397 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs934912522 CA306063274 |
397 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1001711339 CA306063270 |
398 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9293850 rs762201904 |
399 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9293849 rs752008307 |
401 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1599573310 CA404669506 |
404 | M>L | No |
ClinGen Ensembl |
|
|
rs762698735 CA9293847 |
404 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9293846 rs775225266 |
405 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 409 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759075367 CA9293844 |
410 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769449142 CA9293845 |
410 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769449142 CA306063264 |
410 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs746916181 | 413 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746916181 CA9293842 |
413 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs368335845 CA306063229 |
413 | I>T | No |
ClinGen ESP TOPMed |
|
|
CA306063231 rs976438175 |
413 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404669289 rs1282665171 |
414 | D>N | No |
ClinGen gnomAD |
|
|
rs1356775178 CA404669062 |
417 | S>N | No |
ClinGen gnomAD |
|
|
rs1482939918 CA404669054 |
417 | S>R | No |
ClinGen gnomAD |
|
|
CA306063192 rs566879414 |
423 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 423 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372802462 CA9293815 |
425 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9293813 rs747573225 |
427 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9293814 rs757225901 |
427 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404668610 rs35160268 |
429 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9293812 rs778382436 |
430 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM992778 rs758942144 CA9293811 |
430 | R>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs753171734 CA9293810 |
431 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535533604 CA9293808 |
432 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9293807 rs535533604 |
432 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404668483 rs1217696665 |
433 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA306063185 rs1043662615 |
434 | G>S | No |
ClinGen TOPMed |
|
|
CA404668361 rs1176990946 |
436 | P>L | No |
ClinGen TOPMed |
|
|
CA9293805 rs36074897 |
438 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
1 associated diseases with Q9BX97
[MIM: 618183]: Diarrhea 10, protein-losing enteropathy type (DIAR10)
An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. {ECO:0000269|PubMed:26207260, ECO:0000269|PubMed:29661969, ECO:0000269|PubMed:29875123}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. {ECO:0000269|PubMed:26207260, ECO:0000269|PubMed:29661969, ECO:0000269|PubMed:29875123}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9BX97
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BX97 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| developmental process | A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| positive regulation of cellular extravasation | Any process that activates or increases the frequency, rate, or extent of cellular extravasation. |
| regulation of vascular permeability | Any process that modulates the extent to which blood vessels can be pervaded by fluid. |
| tumor necrosis factor-mediated signaling pathway | The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGLAMEHGGS | YARAGGSSRG | CWYYLRYFFL | FVSLIQFLII | LGLVLFMVYG | NVHVSTESNL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QATERRAEGL | YSQLLGLTAS | QSNLTKELNF | TTRAKDAIMQ | MWLNARRDLD | RINASFRQCQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GDRVIYTNNQ | RYMAAIILSE | KQCRDQFKDM | NKSCDALLFM | LNQKVKTLEV | EIAKEKTICT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KDKESVLLNK | RVAEEQLVEC | VKTRELQHQE | RQLAKEQLQK | VQALCLPLDK | DKFEMDLRNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WRDSIIPRSL | DNLGYNLYHP | LGSELASIRR | ACDHMPSLMS | SKVEELARSL | RADIERVARE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NSDLQRQKLE | AQQGLRASQE | AKQKVEKEAQ | AREAKLQAEC | SRQTQLALEE | KAVLRKERDN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAKELEEKKR | EAEQLRMELA | IRNSALDTCI | KTKSQPMMPV | SRPMGPVPNP | QPIDPASLEE |
| 430 | 440 | ||||
| FKRKILESQR | PPAGIPVAPS | SG |